Varaico: Literature-Extracted Genetic Variants

HPD

199 papers

RefSeq Summary

The protein encoded by this gene is an enzyme in the catabolic pathway of tyrosine. The encoded protein catalyzes the conversion of 4-hydroxyphenylpyruvate to homogentisate. Defects in this gene are a...

Pfam Domains

Glyoxalaseaa 18–147UCSCGlyoxalase/Bleomycin resistance protein/Dioxygenase superfamily

Glyoxalaseaa 180–335UCSCGlyoxalase/Bleomycin resistance protein/Dioxygenase superfamily

Gene Aliases

HGNC Name

4-hydroxyphenylpyruvate dioxygenase

HGNC Previous Symbol

PPD

Papers

RefSeq ID

Protein change

DNA change

1–12 of 354 variants

12 papers

NM_002150.3

p.I335M

c.1005C>G

7 papers

NM_002150.3

p.Y160C

c.479A>G

7 papers

NM_002150.3

p.N241S

c.722A>G

7 papers

NM_002150.3

p.A268V

c.803C>T

5 papers

NM_002150.3

p.A29T

c.85G>A

5 papers

NM_002150.3

p.T33A

c.97A>G

5 papers

NM_002150.3

p.T52T

c.156C>A

5 papers

NM_002150.3

p.W78*

c.233G>A

5 papers

NM_002150.3

p.Y200*

c.600C>G

5 papers

NM_002150.3

p.Y200*

c.600C>A

4 papers

NM_002150.3

p.G83D

c.248G>A

4 papers

NM_002150.3

p.A134D

c.401C>A